Clinical Case 097: Paediatric Short case

Ok a quick case from the Paedtric portfolio.

Kathleen is a 13 yo young lady – she presents to the ED with her Mum.  She is a petite girl wearing a fluorescent leotard and supporting a sore wrist.  The triage note states: “Gymnastics injury ? # distal radius

She sure is tender over the dorsal aspect of her distal radius.  The bedside ultrasound shows a bit of tissue oedema – but no definitive fracture.  So might as well get an Xray!

There is a bit of a wait for the Xray as the department is backed up, and it is a slow afternoon in ED – so you decide to make a bit of medical small talk.

Kathleen is a super-keen gymnast – her mother has been coaching her since she was 5 and they think she has a shot at getting into the summer training camp at the AIS.

You take a bit of a glance through her old notes – it is pretty benign aside from a UTI at age 2 yrs and a really long run of acute otits media presentations throughout her primary school years.

One of the junior RMOs thought they heard a systolic murmur during a febrile earache  a few years back – no follow up documented.

She seems to have been pretty well over the last 3 years – no ED presentations since age 10 years.

OK – finally the Xray is back…

No fracture seen..

Source: Radiopedia

Source: Radiopedia





1)OK – simple question – what is the unifying diagnosis?

2) What other history / examination findings will you go looking for?

3)  What is the diagnostic test required?


(1)This is Turner’s syndrome – possibly a mosaic pattern if not all features are present and a late presentation. Though about 30% of 45XO are diagnosed in adolescence – probably less nowadays with the use of widespread antenatal screening.

(2)  Other features on history – delayed menarche (ask about sibs etc), heart defects, renal defects – eg. horseshoe, UTIs, recurrent otitis media osteoporosis, scoliosis,

Exam findings – oedema of hands / feet, webbed neck, typical facies (drooping eyelids, widest eyes, low ears, low hairline, shield chest, wide spaced nipples – these are all more obvious at birth.

(3)  Get a karyotype.

There are a heap of interventions to consider – mainly Growth hormone to maintain growth prior to epiphyseal fusion, and exogenous oestrogen to develop secondary sexual features.

Also risk of behavioural, learning and social problems – so need to be assessed for these.

Some women with Turners are fertile and so counselling around potential family planning is required later in life.


  1. I like this case, especially as you haven’t given the standard ‘textbook’ presenting features..

    Basically I would ask her to get to shopping bags and hold them in front of me

    I would also make sure if she had long hair to tie it back so I could take a good look at her neck

    and if I still wasn’t sure I would do chromosomal analysis.

    (hope that’s the right answer without giving the answer away 🙂

    Damian (@damian_roland)

    • I think you are onto it Damian – nice work.
      A bit of further history to help seal the deal….
      She has an older sister who experienced menarche at age 11, her mum was the same.
      Kathleen is now 13 without any menses… her Mum puts this down to all the training and her strict diet – “she is going to be in the Olympics one day…”
      OK – now it is easy.

  2. Michael Kirkbride says

    This is a really interesting case for me. Im a Nurse Practitioner in an ED in Adelaide.
    I would note the abnormal growth plate in DR and the shortened 3rd and 4th MC bones and call the Ortho Registrar on call for an opinion and review.
    I have no Idea ? some sort of congenital problem which also may result in a heart mumur/defect. Would need advice as a Nurse Practitioner and medical review.
    At a guess blood tests needed for genetic screen??
    Really interested in answer
    Lyell Mac ED Adelaide

  3. I had a quick look and there are a few things that give a shortened 4th and 5th MC and loss of ovarian function and short stature. The main one is Turners Syndrome.
    This x-ray has shortened 4th and 3rd MC.
    Most of literature talks about shortened 4th and 5th MC though.
    Ive asked my paed Ortho consultant for an opinion as well to see what he thinks.
    Waiting for a reply.

  4. Here is the reply from my Paed Ortho Senior Consultant
    Cheers Michael

    Hi Michael,

    I couldn’t easily find a syndrome which included Madelung deformity and Brachdactyly but my “Smith’s Patterns of Human malformation” is at home and is a tome about 10cm thick with a different syndrome every 2 pages. Turner’s syndrome usually only has brachydactyly of the 4th metacarpal but is associated with heart murmurs.

    I enclose some pictures of an idiopathic brachydactyly which I lengthened using the Ilizarov technique.



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